BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy
Bianca Costa Soares de Sá,
Mariana Petaccia de Macedo,
Giovana Tardin Torrezan,
Juliana Casagrande Tavoloni Braga,
Felipe Fidalgo,
Luciana Facure Moredo,
Rute Lellis,
João Pereira Duprat,
Dirce Maria Carraro
Affiliations
Bianca Costa Soares de Sá
Skin Cancer Department, A.C. Camargo Cancer Center
Mariana Petaccia de Macedo
Department of Pathology, A.C. Camargo Cancer Center
Giovana Tardin Torrezan
Laboratory of Genomics and Molecular Biology, A.C. Camargo Cancer Center
Juliana Casagrande Tavoloni Braga
Skin Cancer Department, A.C. Camargo Cancer Center
Felipe Fidalgo
Laboratory of Genomics and Molecular Biology, A.C. Camargo Cancer Center
Luciana Facure Moredo
Skin Cancer Department, A.C. Camargo Cancer Center
Rute Lellis
Department of Pathology, A.C. Camargo Cancer Center
João Pereira Duprat
Skin Cancer Department, A.C. Camargo Cancer Center
Dirce Maria Carraro
Laboratory of Genomics and Molecular Biology, A.C. Camargo Cancer Center
Abstract Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. Conclusions This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors.
